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DNM2 levels normalization improves muscle phenotypes of a novel mouse model for moderate centronuclear myopathy

• Authors : Juliana de Carvalho Neves; Foteini Moschovaki-Filippidou; Johann Böhm

Subjects: MT: Oligonucleotides: Therapies and Applications; congenital myopathy; myotubular myopathy

• Source: Molecular Therapy: Nucleic Acids, Vol 33, Iss , Pp 321-334 (2023)

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Prognostic Value of Genotype–Phenotype Correlations in X-Linked Myotubular Myopathy and the Use of the Face2Gene Application as an Effective Non-Invasive Diagnostic Tool

• Authors : Katarína Kušíková; Andrea Šoltýsová; Andrej Ficek

Subjects: MTM1 gene; myotubularin; X-linked myotubular myopathy

• Source: Genes, Vol 14, Iss 12, p 2174 (2023)

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Autophagy Defects in Skeletal Myopathies

• Authors : Margeta, Marta

Subjects: Biomedical and Clinical Sciences; Clinical Sciences; Brain Disorders

• Source: Annual Review of Pathology Mechanisms of Disease. 15(1)

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Development of versatile allele-specific siRNAs able to silence all the dominant dynamin 2 mutations

• Authors : Swati Dudhal; Lylia Mekzine; Bernard Prudhon

Subjects: MT: RNA/DNA Editing; allele-specific silencing; gene therapy

• Source: Molecular Therapy: Nucleic Acids, Vol 29, Iss , Pp 733-748 (2022)

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Respiratory features of centronuclear myopathy in the Netherlands

• Authors : Bouma, Sietse; Cobben, Nicolle; Bouman, Karlijn ...

Subjects: BIN1: RYR1; Centronuclear myopathy; Cohort

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genes / Prognostic Value of Genotype–Phenotype Correlations in X-Linked Myotubular Myopathy and the Use of the Face2Gene Application as an Effective Non-Invasive Diagnostic Tool

• Authors : Weis, Denisa; Kušíková, Katarína; Ficek, Andrej

Subjects: MTM1 gene; myotubularin; X-linked myotubular myopathyvls-obvuli-2131401

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X-Linked Myotubular Myopathy in a Female Patient with a Pathogenic Variant in the MTM1 Gene

• Authors : Polina Chausova; Aysylu Murtazina; Anna Stepanova

Subjects: X-linked centronuclear myopathy; MTM1; congenital myopathyagris

• Source: International Journal of Molecular Sciences; Volume 24; Issue 9; Pages: 8409

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Ryanodine receptor 1（RYR1）gene variant discovered after the birth of a child with centronuclear myopathy: A case report

• Authors : Aika Korai; Masayuki Someya; Shinichi Ishioka

• Source: 日本周産期・新生児医学会雑誌 / Journal of Japan Society of Perinatal and Neonatal Medicine. 2023, 59(1):111

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Natural history study and statistical modeling of disease progression in a preclinical model of myotubular myopathy

• Authors : Suzie Buono; Arnaud Monseur; Alexia Menuet

Subjects: centronuclear myopathy; myotubular myopathy; preclinical disease model

• Source: Disease Models & Mechanisms, Vol 15, Iss 7 (2022)

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Clinical and genetic analysis of a case with centronuclear myopathy caused by SPEG gene mutation: a case report and literature review

• Authors : Gang Zhang; Min Xu; Tingting Huang

Subjects: Centronuclear myopathy; SPEG gene; Clinical phenotype

• Source: BMC Pediatrics, Vol 21, Iss 1, Pp 1-7 (2021)

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